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rs397507556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507556(C;T)
Make rs397507556(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position115768445
GeneCASQ2
is asnp
is mentioned by
dbSNPrs397507556
dbSNP (classic)rs397507556
ClinGenrs397507556
ebirs397507556
HLIrs397507556
Exacrs397507556
Gnomadrs397507556
Varsomers397507556
LitVarrs397507556
Maprs397507556
PheGenIrs397507556
Biobankrs397507556
1000 genomesrs397507556
hgdprs397507556
ensemblrs397507556
geneviewrs397507556
scholarrs397507556
googlers397507556
pharmgkbrs397507556
gwascentralrs397507556
openSNPrs397507556
23andMers397507556
SNPshotrs397507556
SNPdbers397507556
MSV3drs397507556
GWAS Ctlgrs397507556
Max Magnitude0
ClinVar
Risk rs397507556(A;A) rs397507556(T;T)
Alt rs397507556(A;A) rs397507556(T;T)
Reference Rs397507556(C;C)
Significance Pathogenic
Disease Ventricular tachycardia not provided
Variation info
Gene CASQ2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 2 not provided
Reversed 1
HGVS NC_000001.10:g.116311066G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033942.2, RCV000170900.2,